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GALACTOSEMIA: A CASE STUDY

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 article
GALACTOSEMIA: A CASE STUDY
Eileen K. Hutton, RM, MNSc
Tory Tudor, RM, BHSc
Remi Ejiwunmi, RM, BHSc
ABSTRACT
Inborn errors of metabolism often manifest with varied clinical presentations in the neonatal period. Prevention of morbidity or
mortality is frequently contingent on early diagnosis. Midwives have a role to play in recognizing symptoms that may be consistent
with such a diagnosis. This paper describes the clinical findings in the case of a newborn in midwifery care who was diagnosed with
galactosemia on day 10. This metabolic disorder is described and midwifery implications arising from this case are discussed.
KEY WORDS
galactosemia, midwifery, case study, metabolism, inborn errors
THIS ARTICLE HAS BEEN PEER-REVIEWED.
CASE
Baby boy was a term infant, born at home weighing 4763g
(10lb 8oz), and was a second baby for his mother. The day one
postpartum visit indicated a healthy newborn who was
breastfeeding well, with normal vital signs and no jaundice. He
had voided and passed three meconium stools. On day three,
the baby was feeding approximately every one and a half to
three hours and the birth weight had dropped to 4309g (9lb
8oz). At the day five home visit at 1900 hours, the midwife
noted mild jaundice with the sclera slightly yellow, many
soaked diapers, and breast stool with every feed. The baby's
weight was down to 4281g (9lb 7oz), which was down 10%
from his birth weight.
The mother reported that breastfeeding was going well with
frequent nursing every one and a half hours. The mother's
milk was in, and her breasts were full and leaking. The mother
reported that the baby was alert and waking for feeds, but that
he had had a large vomit after the last feeding. On further
questioning, she reported that the baby had thrown up about a
quarter cup of milk. The midwife witnessed the baby spit up a
mouthful of milk after a feed during the visit. The vomiting
was discussed, as were causes of jaundice and the progression
of normal physiologic jaundice was reviewed.
The backup midwife who conducted the day five visit
contacted the primary midwife and provided an update
regarding the baby's weight loss, the mild jaundice and the
vomiting. The primary midwife planned to visit sooner than
the usual day 10 to day 14 visit in order to assess for adequate
weight gain. Although the drop in weight was surprising,
because the newborn appeared well hydrated, the nursing
appeared adequate, and there had been plenty of wet and dirty
diapers, the midwives were not concerned at this point. The
management plan for any further weight loss included a
pediatric consultation for a weight loss of greater than10%, in
keeping with the College of Midwives of Ontario guidelines.
The following day (day six) at 1500 hours, the mother called to
express concern that the baby would not be gaining weight
because he had continued to spit up moderate amounts with
his feedings. She reported that he continued to be alert, feed
well, and was voiding and stooling normally. It was
recommended that she document feedings, voids, stools, and
vomiting. The midwife planned to visit the next morning to
assess weight gain. Etiology of emesis from pyloric stenosis and
esophageal atresia were reviewed and ruled out. Warning signs
of lethargy, irritability, poor feeding, poor output, and fever
were reviewed with the mother, and she was instructed to page
with any concerns.
Five hours later, at 21:10 of day six, the mother paged to report
that the baby had continued to vomit more and more forcefully
in larger and larger amounts, and that he was not feeding well.
The midwife directed her to proceed immediately to the
hospital for assessment by the pediatrician on call. While the
family was en route, the midwife contacted the on call
pediatrician and provided the clinical history. The baby was
seen in the emergency department where the admission record
noted that he was very jaundiced but was in no acute distress,
and that he was arousable and active when handled. The
admission notes report that his vital signs were normal with
temperature of 370 C, pulse 148, respirations 48, and oxygen
saturation of 97%. His weight was 4000g (8lb 13oz), which was
a weight loss of 16% from birth weight. The anterior fontanel
was assessed to be somewhat sunken. His abdomen was soft,
with no apparent organomegaly or guarding. The baby was
admitted to the pediatric unit for treatment of jaundice and
dehydration, with a management plan of intravenous
rehydration and phototherapy. outcome of a septic screen. He
continued to nurse and vomit about 50cc with each feed. The
bilirubin was repeated at 0830 and had dropped to 404
ìmol/L.÷
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 The following day (day 8) the bilirubin was tested at 0716 hours
and had dropped to 355 ìmol/L, but by 1104 hours it was up
to 414 ìmol/L. By 1850 hours it had dropped again to 378
ìmol/L. Two days later, on day 10, the pediatrician indicated
that the bilirubin seemed to be decreasing with treatment, and
that the baby's weight was increasing. There had been no
vomiting for 48 hours. At 1700 hours that day, breastfeeding
was stopped and the baby was put on a soya-based formula, and
a galactosemia screen was ordered. The management plan was
for the baby to be discharged once the bilirubin was within
normal limits, weight gain was maintained and the
galactosemia screen was negative.
The galactosemia screen was returned, positive, on day 13 and
mother and baby were discharged home. With soya-based
formula feedings, the baby was gaining weight and the jaundice
had improved. The family was following up with the clinic for
galactosemia at the children's hospital. At a home visit by the
midwife on day 20, soya feedings were going well with the baby
feeding every two hours, taking two to three ounces. per feed.
The baby had regained his birth weight, and urinary and stool
output were normal.
GALACTOSEMIA
The sugar found in milk is the disaccharide, lactose. When
lactose is digested it is broken into its component
monosaccharides: glucose and galactose. Galactosemia is an
autosomal-recessive metabolic disorder in which there is a
deficiency of the enzyme galactose-1-phosphate uridyl
transferase, which is responsible for the normal metabolism of
the monosaccharide galactose.
There are over 100 different inheritable mutations that will
manifest some degree of galactosemia. Some of these mutations
will result in a total inability to process galactose (often referred
to as classic galactosemia), while other mutations result in
varying degrees of decreased ability to handle galactose in the
diet. The Duarte mutation is one of the more common variant
types of galactosemia, and individuals with this variant may be
asymptomatic. Galactosemia seems to be found in all
populations, although the prevalence is variable (for example:
1/62,841 babies screened in Philippines; 1/23,000 in Ireland,
1/700 in the Irish itinerant population)., Based on a prevalence
study in California, the rate of classic galactosemia is estimated
to be 1/47,000 in the white population in the United States of
America.
Newborns with classic galactosemia present very soon after
birth with symptoms, which include jaundice, vomiting,
enlarged liver, cataracts and failure to thrive. Left untreated,
classic galactosemia can result in mental and motor skill delays,
blindness, liver impairment and death. The treatment involves
a galactose-restricted diet and counselling. It is necessary for
these babies to be weaned immediately from breast milk or any
formula containing lactose or galactose and to be put on a soya-
based product.
Even with early diagnosis and treatment, long-term
manifestations of the condition seem to be present in most
individuals with galactosemia, including some mental delays,
learning disorders, fine and gross motor skill complications,
and (amongst females) ovarian failure. In families in which
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galactosemia has been diagnosed, subsequent newborns can be
diagnosed quickly using cord blood samples.,
Badawi et al reported findings when 32 children with
galactosemia in Ireland were followed between 1977-1992. They
found survival was enhanced with aggressive neonatal
management. Symptoms improved with a galactose-restricted
diet but complications did not correlate with the day of starting
the diet.2 In evaluating the cognitive outcome in a British
cohort of 45 children, Shield and colleagues found that
variability in cognitive outcome appeared to be determined by
the genotype rather than the degree of metabolic control.
In some jurisdictions galactosemia is part of newborn screening
programs. In an Irish centre where this approach is used, the
mean time to diagnosis is 6.9 days.2 There is debate, however,
about the efficacy of this approach, in part because neonates
may present based on symptoms alone before the results of
testing are available. It has been suggested that any newborn
who presents in the first two weeks of life with symptoms
consistent with galactosemia should be screened. This latter
approach is used in Ontario, the jurisdiction in which our case
presented.
Infants with galactosemia are likely to present at the end of the
first or during the second week of life with progressive jaundice
resulting from an elevated direct serum bilirubin. The
hyperbilirubinemia may initially be indirect, as a result of
hemolysing action on red blood cells from the galactose-1-
phosphate. The jaundice is thought to result from a direct toxic
effect on the liver of galactose-1-phosphate that builds up due
to the deficiency of the enzyme galactose-1-phosphate uridyl
transferase.7 The jaundice may be accompanied with vomiting,
diarrhea, poor weight gain, and, sometimes hypoglycaemia.
Occasionally central nervous system symptoms may be
prominent in situations where toxicity of galactose-1-phosphate
is directed to the brain. A later symptom is cataract formation.7
DIFFERENTIAL DIAGNOSIS
There are more than 300 known inborn errors of metabolism,
which manifest with varied clinical presentations. These
metabolic disorders may be broadly classified into
macromolecular and micromolecular groups. Those in the
micromolecular group of metabolic disorders often present
with acute onset of symptoms in the neonatal period.
Prevention of serious long-term sequelae or death is often
contingent on early diagnosis.7, Galactosemia is one of the
inborn errors that present very early in the neonatal period,
with presenting symptoms that are often consistent with sepsis.
However, with full term infants where there is no particular
septic risk, and the presenting symptoms include lethargy, poor
feeding, apnea or tachypnea, or recurrent vomiting, inborn
errors of metabolism should be considered as part of the
differential diagnosis. Sepsis may co-exist with inborn errors of
metabolism and it is, therefore, important that they not be
excluded from the differential diagnosis even when sepsis is
present. When jaundice is part of the presentation,
galactosemia should be considered along with hereditary
tyrosinemia, alpha1-antitrypsin deficiency, neonatal
hemochromatosis, Zellweger syndrome, Niemann-Pick disease,
and glycogen storage disease type IV.7
 When inborn errors of metabolism are considered as part of
a differential diagnosis, the screening laboratory studies
should include: complete blood count with differential,
urinalysis, blood gases, serum electrolytes, blood glucose,
plasma ammonia, urine reducing substances, plasma and
urine amino acids (quantitative), urine organic acids, and
plasma lactate. The two specific tests that will be useful in
diagnosing of galactosemia are the presence of reducing
substances in urine and RBC galactose-1-phosphate uridyl
transferase.7
MIDWIFERY IMPLICATIONS
The onset of symptoms of galactosemia at the end of the
first week in this case was consistent with the expected time
frame for the condition. The newborn visits for this baby
were made according to the usual schedule of midwifery
visits on day one, three and five. On day five, early symptoms
were present, but went unrecognized, although good
midwife to midwife communication allowed for a plan to be
put into place to follow this baby more closely than usual.
The parents were instructed to watch for signs of any
problems associated with either hyperbilirubinemia or the
vomiting including: lethargy, irritability, poor feeding, poor
output, fever, increasing jaundice, or vomiting. The parents
did identify persistence in the vomiting, and, later,
continued vomiting and poor feeding. This identification
authors’ biographies
Eileen Hutton is a registered midwife practicing in a
quarter time position in Mississauga at Trillium Health
Centre. She is completing her PhD in Clinical epidemiology
at The Institute of Medical Science at The University of
Toronto focusing on randomised clinical trials. She is on
leave from a faculty position at McMaster University.
Tory Tudor is a graduate of the Midwifery Education
Programme at McMaster University and practices in
Mississauga at the Trillium Health Centre.
'Remi Ejiwunmi is a graduate of the Midwifery Education
Programme at McMaster University and practices in
Mississauga at the Trillium Health Centre. She is President
of the Association of Ontario Midwives.
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resulted in rapid follow-up with pediatrics, on day six, when
the vomiting had intensified. The weight loss noted on day
five continued, and the formerly mild jaundice was severe.
Excellent communication between the back-up and primary
midwife, and between the midwives and the pediatrician
ensured that the rapid onset and progression of the baby's
condition was understood and managed.
The midwives provided supportive care while the diagnosis
was being made. Help was provided during the transition to
bottle-feeding, including assistance with rapid cessation of
breastfeeding. It is imperative for midwives to have a good
understanding of rapid weaning, as well as bottle and
formula feeding, in order to assist women in circumstances
such as this one. This mother breastfed her first infant, and
appreciated assistance with new strategies to soothe her
second baby without breastfeeding.
Providing accurate information to the family was
complemented by a useful website that the family could
access.4 Spending time with the family following the
diagnosis, and re-visiting the birth experience with them,
may have assisted to normalize mothering and parenting and
to re-focus the family on their new baby, and away from the
diagnosis.
references
1. Lee JY, Padilla CD, Chual EL. Screening for
galactosemia: Philippines experience. Newborn Screening
Study Group. Southeast Asian J Trop Med Public Health
1999;30 suppl 2: 66-8.
2. Badawi N et al. Galactosaemia a controversial disorder.
Screening and outcome. Ireland 1972-1992. Ir Med J 1996;
89 (1):16-7.
3. Suzuki M, West C, Beutler E. Large-scale molecular
screening for galactosemia alleles in a pan-ethnic
population. Hum Genet 2001; Aug: 109 (2):210-5.
4. URL: http://www.galactosemia.org
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